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NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) AND Anemia sideroblastic and spinocerebellar ataxia

Significance: Pathogenic
ClinVar: RCV000012331

Variant: NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys)

Type: Variant
Allele: NM_004299.6(ABCB7):c.1300G>A (p.Glu434Lys) 26614
Gene:
Type: single nucleotide variant
Location: ChrX: 74290268 - assembly GRCh37
ChrX: 75070433 - assembly GRCh38
References: dbSNP: 80356714
OMIM: 300135.0002

Condition

Disease: Anemia sideroblastic and spinocerebellar ataxia